Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 10 | 43106550 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
6 | 0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
5 | 0.827 | 0.120 | 10 | 43114489 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 10 | 43120192 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 10 | 43105018 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.200 | 3 | 10149808 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
4 | 0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.200 | 7 | 101131931 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
9 | 0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
8 | 0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2003 | |||||
|
5 | 0.827 | 0.160 | 8 | 109578004 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 3 | 10146624 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
4 | 0.851 | 0.080 | 11 | 112093192 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 1997 | 2005 | ||||
|
6 | 0.827 | 0.120 | 10 | 43114492 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.882 | 0.120 | 10 | 43113663 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
11 | 0.742 | 0.160 | 10 | 43114488 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.882 | 0.120 | 10 | 43114493 | missense variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.851 | 0.200 | 11 | 112094815 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.200 | 3 | 10142097 | missense variant | G/A;C;T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2005 | 2007 | |||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2005 | 2008 |